A microduplication at 7q11.23 may be associated with a number of clinical findings.


7q11.23 is the locus affected by the Williams-Beuren microdeletion syndrome.


Clinical findings:

(1) speech delay

(2) language delay

(3) variable developmental delay

(4) variable mental retardation

(5) deficits in social interaction skills including autism-spectrum disorder

(6) variable behavioral problems

(7) hypotonia in the neonatal period

(8) variable joint laxity

(9) mild dysmorphic facial features

(9a) high broad nose

(9b) thin upper lip and/or short philtrum

(9c) broad forehead

(9d) low set ears and/or posterior rotation

(9e) hypertelorism

(9f) straight eyebrows

(9g) variable cleft palate

(10) variable congenital anomalies (congenital heart disease, vertebral anomalies, genitourinary anomalies, etc)


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